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Objective  To determine the frequency of germline and somatic pathogenic  BRCA1  and  BRCA2  variants in patients with high‐grade serous ovarian cancer tested by next‐generation sequencing (NGS), with the aim of defining the best strategy to be implemented in future routine testing.    Design  National retrospective audit.    Setting  The All Wales Medical Genomics Service (AWMGS).    Population  Patients with high‐grade serous ovarian/fallopian tube/peritoneal cancer referred by oncologists to the AWMGS between February 2015 and February 2021 for germline and/or tumour testing of the  BRCA1  and  BRCA2  genes by NGS.    Methods  Analysis of NGS data from germline and/or tumour testing.    Main outcome measures  Frequency of  BRCA1  and  BRCA2  pathogenic variants.    Results  The overall observed germline/somatic pathogenic variant detection rate was 11.6% in the 844 patients included in this study, with a 9.2% (73/791) germline pathogenic variant detection rate. Parallel tumour and germline testing was carried out for 169 patients and the overall pathogenic variant detection rate for this cohort was 14.8%, with 6.5% (11/169) shown to have a somatic pathogenic variant. Two  BRCA1  dosage variants were found during germline screens, representing 2.0% (2/98) of patients with a pathogenic variant that would have been missed through tumour testing alone.    Conclusions  Parallel germline and tumour  BRCA1  and  BRCA2  testing maximises the detection of pathogenic variants in patients with high‐grade serous ovarian cancer.    Tweetable abstract  Parallel germline and tumour testing maximises  BRCA  pathogenic variant detection in ovarian cancer.

bjog: an international journal of obstetrics and gynaecology

The detection of germline and somatic  BRCA1/2  genetic variants through parallel testing of patients with high‐grade serous ovarian cancer: a national retrospective audit